Publications:

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: PLD1: 1192C>T; R398C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: PLD1: R398C

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 2

View BVdb publication page

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Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

Plos One

Pilling, Luke C LC; Atkins, Janice L JL; Duff, Michael O MO; Beaumont, Robin N RN; Jones, Samuel E SE; Tyrrell, Jessica J; Kuo, Chia-Ling CL; Ruth, Katherine S KS; Tuke, Marcus A MA; Yaghootkar, Hanieh H; Wood, Andrew R AR; Murray, Anna A; Weedon, Michael N MN; Harries, Lorna W LW; Kuchel, George A GA; Ferrucci, Luigi L; Frayling, Timothy M TM; Melzer, David D

Publication Date: 2017

Variant appearance in text: rs143845082

PubMed Link: 28957414

Variant Present in the following documents:

• Main text
• pone.0185083.pdf

View BVdb publication page

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Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations.

Nature Communications

Brown, David D; Smeets, Dominiek D; Székely, Borbála B; Larsimont, Denis D; Szász, A Marcell AM; Adnet, Pierre-Yves PY; Rothé, Françoise F; Rouas, Ghizlane G; Nagy, Zsófia I ZI; Faragó, Zsófia Z; Tőkés, Anna-Mária AM; Dank, Magdolna M; Szentmártoni, Gyöngyvér G; Udvarhelyi, Nóra N; Zoppoli, Gabriele G; Pusztai, Lajos L; Piccart, Martine M; Kulka, Janina J; Lambrechts, Diether D; Sotiriou, Christos C; Desmedt, Christine C

Publication Date: 2017-04-20

Variant appearance in text: PLD1: R398C

PubMed Link: 28429735

Variant Present in the following documents:

• ncomms14944-s4.xlsx, sheet 10

View BVdb publication page

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Whole-exome sequencing of Finnish hereditary breast cancer families.

European Journal Of Human Genetics : Ejhg

Määttä, Kirsi K; Rantapero, Tommi T; Lindström, Anna A; Nykter, Matti M; Kankuri-Tammilehto, Minna M; Laasanen, Satu-Leena SL; Schleutker, Johanna J

Publication Date: 2016-01

Variant appearance in text: PLD1: 1192C>T; R398C

PubMed Link: 27782108

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: PLD1: R398C

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: PLD1: 1192C>T; R398C; rs143845082

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: PLD1: 1192C>T; R398C; rs143845082

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: PLD1: R398C

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: PLD1: R398C; rs143845082

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.

Plos Genetics

Parker, Stephen C J SC; Gartner, Jared J; Cardenas-Navia, Isabel I; Wei, Xiaomu X; Ozel Abaan, Hatice H; Ajay, Subramanian S SS; Hansen, Nancy F NF; Song, Lingyun L; Bhanot, Umesh K UK; Killian, J Keith JK; Gindin, Yevgeniy Y; Walker, Robert L RL; Meltzer, Paul S PS; Mullikin, James C JC; Furey, Terrence S TS; Crawford, Gregory E GE; Rosenberg, Steven A SA; Samuels, Yardena Y; Margulies, Elliott H EH

Publication Date: 2012

Variant appearance in text: PLD1: R398C

PubMed Link: 22912592

Variant Present in the following documents:

• pgen.1002871.s018.xls, sheet 1
• pgen.1002871.s018.xls, sheet 2

View BVdb publication page

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